Linked Data
ClinVar Variation Id:
898837
ClinVar RCV Id:
RCV001142958
dbSNP Id:
rs1670575187
MyVariant Identifiers:
chr2:g.73115615T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72888486T>C , CM000664.2:g.72888486T>C | GRCh38 |
| NC_000002.11:g.73115615T>C , CM000664.1:g.73115615T>C | GRCh37 |
| NC_000002.10:g.72969123T>C | NCBI36 |
| NG_008234.1:g.6104T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.477T>C MANE Select | ENSP00000234454.5:p.Cys159= | |
| ENST00000234454.5:c.477T>C | ENSP00000234454.5:p.Cys159= | |
| ENST00000498749.1:n.422T>C | ||
| NM_003124.4:c.477T>C | NP_003115.1:p.Cys159= | |
| NM_003124.5:c.477T>C MANE Select | NP_003115.1:p.Cys159= |